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Thursday, January 19, 2012

This week we completed the genetic sequencing that answered two important questions:*Should Kathy consider bilateral mastectomy?*Should our daughter, Lara, consider early mastectomy to reduce her lifetime risk of breast cancer?

Here's how we asked the questions.

On December 20, Kathy met with Genetic Counselor Kathleen Swenson to discuss the risk of hereditary Breast Cancer. Kathleen wrote:

Indication: Recent diagnosis of breast cancer; limited maternal family history.

Personal History Family History__ None _X_ None_X_ Breast Cancer; Age 49 __ Family Hx Breast__ Ovarian Cancer; Age __ Family Hx Ovarian__ Colon Cancer; Age __ Family Hx Colon__ Other __ Family Hx Other

Risk Assessment: 49yo at age of diagnosis; premenopausal. Limited family structure on maternal side of the family limits risk assessment.

Counseling - We discussed the following issues:

_X_ Sporadic vs. hereditary cancer

_X_ Autosomal dominant inheritance

_X_ BRCA1/2 & cancer risks (breast, ovary, and other)

_X_ Risks, benefits and limitations of genetic testing

_X_ Possible Results and implications

_X_ Practicalities of testing (timing, costs)

_X_ Insurance/discrimination concerns

_X_ Testing is most informative with a known mutation in family; importance of sharing information

_X_ Testing is more informative when the first relative tested is an individual who has had cancer

Implications of a Positive result (for patient and family): Management as appropriate; implications for first degree relatives.

Implications of a Negative result (for patient and family): Likely sporadic cancer. No further testing indicated at this time.

Other Notes: Kathy is a lovely woman who is an artist and owns a gallery in Boston's South End. Her husband works here at BIDMC. Kathy felt that it was important and ideal to have this information for the purpose of having a complete picture when it comes to determining her care plan moving forward. There is very little information regarding the maternal family history and limited family structure as she is an only child. We discussed testing in detail, including the issue of variants of uncertain significance. BRCA1 and BRCA2 comprehensive analysis was ordered, as was BART analysis for completeness. I will notify Kathy upon receipt of her results as well as the physicians caring for her."

This week, we received the report

"Ms. Halamka was seen previously and elected to proceed with genetic testing for BRCA1 and BRCA2. Results are NEGATIVE. No mutations were identified in either of these genes. Both comprehensive analysis and BART analysis was completed."

Thus, her cancer is environmental and not the result of specific BRCA mutations. She will not need to consider bilateral mastectomy at this time. We explained the results to our daughter and she will follow whatever best practice is recommended for standard breast cancer screening over her lifetime.

Since Kathy will lose her hair next week, we purchased a simple wig in addition to the hat and head wrap we bought last week.

Finally, Kathy has begun to have gastrointestinal symptoms . Small, frequent, bland meals work. Anything else causes abdominal discomfort and mild pain as the rapidly dividing cells in her GI tract begin to die as a result of chemotherapy.

Tomorrow, we return to BIDMC for Cycle 2 of Adriamycin/Cytoxan. Kathy was very strong and rested when she started Cycle 1. For Cycle 2, she'll be a little weaker.

Every week has its positives and negatives. Knowing that her cancer is environmental and not genetic is this week's good news for Kathy and our family.